Rare Disease Day Introduction

Happy Rare Disease Day!

There are currently approximately 7,000 different rare diseases (NORD). While each individual rare disease or disorder has a low prevalence and is defined in America as affecting less than 200,000 Americans, rare diseases as a whole category are not rare (NORD). Rare diseases are estimated to affect approximately 1 in 10 people in America (NORD). Think about that. With those statistics, it is likely that each of us knows multiple people who have a rare disease or disorder.


Rare disease day is about increasing awareness and opening the space for people to acknowledge how much they do not know. So, what can we do? How can we reconcile that all these rare diseases exist, and we will likely encounter them, but there is no way to know every way in which each of the approximately 7,000 rare diseases will present? We can remember the acronym R.A.R.E.


1. Research

Conducting research can look many different ways. This may mean conducting research on rare disorders. I am currently working on a research project to investigate experiences with dysphagia in people with Hypermobile Ehlers Danlos Syndrome (EDS) because I noticed a trend that many people I knew with EDS reported swallowing challenges or differences, but there was very minimal research on the topic. Research can also mean taking the time to read up on the research available in the literature. Having the humility and the grace for yourself and others to learn alongside our patients — both those with already diagnosed rare conditions and those with currently undiagnosed and unexplained symptoms.


2. Awareness

Awareness comes in the form of taking the time to learn about rare diseases and disorders, and the many ways in which conditions may present. There is a case study out there about me that says I am the “first case of my kind to be described”. If my physician had not been aware of my condition, the cause of my respiratory failure — an acquired tracheobronchomalacia presenting at 19 years old — would likely have gone unrecognized and thus untreated. Awareness can be taking a few minutes occasionally to browse through the lists of rare diseases. This may seem overwhelming at first. However, the most important takeaway is that there are an almost infinite number of possibilities, and it is crucial not to dismiss patients just because the first diagnosis is not confirmed. Becoming comfortable in the state of uncertainty will be challenging, but the benefit to our future patients will be unparalleled. Here are some resources to begin browsing and increasing your awareness —

3. Recognition

Another step will be recognizing patterns or warning signs for rare diseases. Many of the rare diseases are genetic (NORD). This may or may not mean that they run in families because genetic disorders and diseases can be hereditary, can be a condition where both parents need to have a copy of the mutated gene so that the child has two copies, or they can be from random mutations. One clue may be a familial pattern of similar challenges, health issues, or early death. Recognition also involves reframing our thinking. Just because the initial testing is normal, or not abnormal in a known pattern, does that mean that a condition is not serious. It still warrants attention and effort. Time is precious, and that may be a limiting factor. However, even just a few minutes of reflection and conversation could make all the difference for that patient. As Manasco (2021) said, “it doesn’t matter how rare it is if it is sitting in your chair”.


4. Education

Finally, education and curiosity. This means asking questions. Stepping back to the basics of how the body works, rather than being confined by the boxes of how something should be. It means having conversations with those around you. Those conversations can be powerful and spark more conversations. Education is about being open to the possibilities. To truly working with patients in a partnership — understanding their goals and what is currently getting in the way. Education can be in a classroom, in a clinic, with others, individually, and so much more. We need to be students who are always learning and open to new possibilities, because “a doctor is a student till he dies, once he considers himself not a student anymore, the doctor inside him dies” (Sir William Osler). We will be provided the beginning of some education on rare diseases in blog posts over the next couple weeks to introduce you to a few of the many possible conditions you may encounter during your career.


Stay tuned for more education posts to come, including information on Ehlers Danlos Syndromes, Branchiootorenal syndrome, Pitt-Hopkins syndrome, and Landau Kleffner Syndrome.


Citations


NORD. (2019). Rare disease day: Frequently asked questions. National Organization for Rare Disorders (NORD). Retrieved February 21, 2022, from https://rarediseases.org/wp-content/uploads/2019/01/RDD-FAQ-2019.pdf


Manasco, H. (2021). Introduction to neurogenic communication disorders. Jones & Bartlett Learning.

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